{"title":"囊性纤维化在乌克兰:年龄,起源和追踪三角洲F508突变。","authors":"L A Livshits, S A Kravchenko","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Seven already known CF mutations were searched in 170 unrelated cystic fibrosis patients from different regions of Ukraine. Their frequencies in this sample were: delta F508-50%, 1677delTA-0.3% (10th exon), R553X-0.6%, G551D-0.3% (11th exon), R334W-0.6% (7th exon). 1154insTC (7th exon) and S549I (11th exon) were not found. Heterozygotes for delta F508 were searched in 865 healthy volunteers from different Ukranian regions. Their frequencies ranged from 1:28 to 1:70. We report here unpublished population data from Ukraine in order to discuss the origin, evolution and dispersion of chromosomes bearing the delta F508 mutation. Selection in terms of heterozygote advantage is also discussed.</p>","PeriodicalId":77141,"journal":{"name":"Gene geography : a computerized bulletin on human gene frequencies","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"1996-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.\",\"authors\":\"L A Livshits, S A Kravchenko\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Seven already known CF mutations were searched in 170 unrelated cystic fibrosis patients from different regions of Ukraine. Their frequencies in this sample were: delta F508-50%, 1677delTA-0.3% (10th exon), R553X-0.6%, G551D-0.3% (11th exon), R334W-0.6% (7th exon). 1154insTC (7th exon) and S549I (11th exon) were not found. Heterozygotes for delta F508 were searched in 865 healthy volunteers from different Ukranian regions. Their frequencies ranged from 1:28 to 1:70. We report here unpublished population data from Ukraine in order to discuss the origin, evolution and dispersion of chromosomes bearing the delta F508 mutation. Selection in terms of heterozygote advantage is also discussed.</p>\",\"PeriodicalId\":77141,\"journal\":{\"name\":\"Gene geography : a computerized bulletin on human gene frequencies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1996-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene geography : a computerized bulletin on human gene frequencies\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene geography : a computerized bulletin on human gene frequencies","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.
Seven already known CF mutations were searched in 170 unrelated cystic fibrosis patients from different regions of Ukraine. Their frequencies in this sample were: delta F508-50%, 1677delTA-0.3% (10th exon), R553X-0.6%, G551D-0.3% (11th exon), R334W-0.6% (7th exon). 1154insTC (7th exon) and S549I (11th exon) were not found. Heterozygotes for delta F508 were searched in 865 healthy volunteers from different Ukranian regions. Their frequencies ranged from 1:28 to 1:70. We report here unpublished population data from Ukraine in order to discuss the origin, evolution and dispersion of chromosomes bearing the delta F508 mutation. Selection in terms of heterozygote advantage is also discussed.